GCNT3
Glucosaminyl (N-Acetyl) Transferase 3, Mucin Type
Gene Information Card
| Symbol | GCNT3 |
|---|---|
| Full Name | Glucosaminyl (N-Acetyl) Transferase 3, Mucin Type |
| Gene Type | protein-coding |
| Chromosomal Location | 15q21.3 |
| NCBI Gene ID | 9245 ncbi.nlm.nih.gov/gene/9245 |
| Ensembl ID | ENSG00000140287 |
| UniProt ID | O95395 |
| OMIM ID | 603619 |
| HGNC ID | 4207 |
| Aliases | C2GnT-M, C2GNTM, GNTM, core 2 beta-1,6-N-acetylglucosaminyltransferase-M |
Description
GCNT3 encodes a member of the beta-1,6-N-acetylglucosaminyltransferase family. This enzyme catalyzes the transfer of N-acetylglucosamine (GlcNAc) to the core 1 O-glycan structure (Galβ1-3GalNAcα1-Ser/Thr) to form core 2 O-glycans (GlcNAcβ1-6(Galβ1-3)GalNAcα1-Ser/Thr). It is specifically expressed in mucin-secreting tissues and plays a critical role in the biosynthesis of mucin-type O-glycans, influencing cell adhesion, signaling, and tumor progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Gastric Cancer | Altered GCNT3 expression affects mucin glycosylation, promoting tumor cell invasion and metastasis. | PMID: 23431173 |
| Colorectal Cancer | Upregulation of GCNT3 is associated with poor prognosis and increased metastatic potential. | PMID: 25695677 |
| Pancreatic Cancer | GCNT3 overexpression contributes to aberrant O-glycosylation and tumor progression. | PMID: 27036124 |
| Cystic Fibrosis | GCNT3 expression is altered in airway epithelial cells, affecting mucin composition. | PMID: 17327269 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Colon | 42.3 | High |
| Stomach | 38.1 | High |
| Small Intestine | 35.7 | High |
| Pancreas | 22.5 | Medium |
| Trachea | 18.9 | Medium |
| Salivary Gland | 15.2 | Medium |
| Esophagus | 12.8 | Medium |
| Liver | 1.2 | Low |
| Brain | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| LS 174T (colon adenocarcinoma) | 58.4 | High expression |
| HT-29 (colorectal adenocarcinoma) | 45.2 | High expression |
| MKN45 (gastric carcinoma) | 39.7 | High expression |
| PANC-1 (pancreatic carcinoma) | 21.3 | Medium expression |
| A549 (lung carcinoma) | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1073G>A (p.Arg358His) | Missense | <0.01% (gnomAD) | Unknown functional impact |
| c.1246C>T (p.Arg416Trp) | Missense | <0.01% (gnomAD) | Unknown functional impact |
| c.1429G>A (p.Gly477Ser) | Missense | <0.01% (gnomAD) | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • galactosyltransferase activity (GO:0008378) | • transferase activity (GO:0016757) |
| • Golgi apparatus (GO:0005794) | • Golgi membrane (GO:0000139) |
| • protein glycosylation (GO:0006486) | • protein O-linked glycosylation via serine or threonine (GO:0018243) |
| • protein O-linked glycosylation (GO:0006493) |
Pathways
• REACT:21366: O-linked glycosylation of mucins
• REACT:21367: Core 2 O-glycan biosynthesis
• KEGG:00512: Mucin type O-glycan biosynthesis
Protein Summary
The GCNT3 protein (UniProt O95395) is a type II transmembrane glycosyltransferase localized to the Golgi apparatus. It contains a short N-terminal cytoplasmic domain, a transmembrane domain, and a large C-terminal catalytic domain facing the Golgi lumen. The enzyme uses UDP-GlcNAc as a donor substrate to add GlcNAc in a beta-1,6 linkage to the core 1 O-glycan structure, generating core 2 O-glycans. This modification is essential for the formation of complex mucin-type O-glycans that modulate cell-cell interactions, pathogen binding, and tumor progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GCNT3 Knockout HEK293 Cell Line | EDJ-KQ6523 | Human | 9245 | Details Get a Quote |
| GCNT3 Knockout A-549 Cell Line | EDJ-KQ29332 | Human | 9245 | Details Get a Quote |
| GCNT3 Knockout HCT 116 Cell Line | EDJ-KQ30677 | Human | 9245 | Details Get a Quote |
| GCNT3 Knockout HeLa Cell Line | EDJ-KQ55110 | Human | 9245 | Details Get a Quote |
